mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for CYB5R4
Gene summary
Basic gene Info.Gene symbolCYB5R4
Gene namecytochrome b5 reductase 4
CytomapUCSC genome browser: 6pter-q22.33
Type of geneprotein-coding
DescriptionN-terminal cytochrome b5 and cytochrome b5 oxidoreductase domain-containing proteinNADPH cytochrome B5 oxidoreductasecytochrome b-type NAD(P)H oxidoreductaseflavohemoprotein b5+b5Rflavohemoprotein b5/b5R
Modification date20141207
dbXrefs MIM : 608343
HPRD : 12218
ProteinUniProt: Q7L1T6
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CYB5R4
BioGPS: 51167
PathwayNCI Pathway Interaction Database: CYB5R4
Pathway Commons: CYB5R4
ContextiHOP: CYB5R4
ligand binding site mutation search in PubMed: CYB5R4
UCL Cancer Institute: CYB5R4
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006091generation of precursor metabolites and energy10611283
GO:0006801superoxide metabolic process10611283
GO:0055114oxidation-reduction process15131110

Ligand binding site mutations for CYB5R4

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Protein structure related information for CYB5R4
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for CYB5R4 from PDB

Differential gene expression and gene-gene network for CYB5R4
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of CYB5R4 and the right PPI network was created from samples without mutations in the LBS of CYB5R4. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for CYB5R4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0017661Glomerulonephritis, IGA1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for CYB5R4
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CYB5R4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
HEMHEME B3lf5AY85 A99 H112
HEMHEME B3lf5BY85 H112

Conservation information for LBS of CYB5R4
Multiple alignments for Q7L1T6 in multiple species
LBSAA sequence# speciesSpecies
A99DELMRAAGSDG2Homo sapiens, Bos taurus
A99DELMRAAGADG2Mus musculus, Rattus norvegicus
A99EELMRAAGIDS1Danio rerio
A99EELMKAAGRDG1Xenopus tropicalis
E95PGGEDELMRAA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E95PGGEEELMRAA1Danio rerio
E95PGGEEELMKAA1Xenopus tropicalis
F108DGTDLFDQVHR2Xenopus tropicalis, Bos taurus
F108DGTDLFNEVHR2Mus musculus, Rattus norvegicus
F108DGTELFDQVHR1Homo sapiens
F108DSTDLFDEVHR1Danio rerio
G104AAGADGTDLFN2Mus musculus, Rattus norvegicus
G104AAGSDGTELFD1Homo sapiens
G104AAGIDSTDLFD1Danio rerio
G104AAGRDGTDLFD1Xenopus tropicalis
G104AAGSDGTDLFD1Bos taurus
G91MEYHPGGEDEL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G91MDFHPGGEEEL1Danio rerio
G91MEYHPGGEEEL1Xenopus tropicalis
H112LFDQVHRWVNY3Homo sapiens, Xenopus tropicalis, Bos taurus
H112LFNEVHRWVNY2Mus musculus, Rattus norvegicus
H112LFDEVHRWVNY1Danio rerio
H89PYMEYHPGGED4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
H89AYMDFHPGGEE1Danio rerio
H89PYMEYHPGGEE1Xenopus tropicalis
L107ADGTDLFNEVH2Mus musculus, Rattus norvegicus
L107SDGTELFDQVH1Homo sapiens
L107IDSTDLFDEVH1Danio rerio
L107RDGTDLFDQVH1Xenopus tropicalis
L107SDGTDLFDQVH1Bos taurus
L121NYESMLKECLV5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
L121NYESMLKECLI1Xenopus tropicalis
L96GGEDELMRAAG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
L96GGEEELMRAAG1Danio rerio
L96GGEEELMKAAG1Xenopus tropicalis
M120VNYESMLKECL6Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus
P90YMEYHPGGEDE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
P90YMDFHPGGEEE1Danio rerio
P90YMEYHPGGEEE1Xenopus tropicalis
R98EDELMRAAGSD2Homo sapiens, Bos taurus
R98EDELMRAAGAD2Mus musculus, Rattus norvegicus
R98EEELMRAAGID1Danio rerio
R98EEELMKAAGRD1Xenopus tropicalis
V111DLFDQVHRWVN2Xenopus tropicalis, Bos taurus
V111DLFNEVHRWVN2Mus musculus, Rattus norvegicus
V111ELFDQVHRWVN1Homo sapiens
V111DLFDEVHRWVN1Danio rerio
V115QVHRWVNYESM3Homo sapiens, Xenopus tropicalis, Bos taurus
V115EVHRWVNYESM3Danio rerio, Mus musculus, Rattus norvegicus
Y117HRWVNYESMLK6Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus
Y85YNVSPYMEYHP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y85YNLSAYMDFHP1Danio rerio
Y85YNITPYMEYHP1Xenopus tropicalis

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